Our Purpose: Supporting Ongoing Medical Research for Congenital Myopathies

The Joshua Frase Foundation is dedicated to supporting ongoing medical research for myotubular myopathy and other related congenital myopathies. Ongoing research is needed to discover causes of and cures for this deadly disorder.

Rather than concentrating in only one area of study, a team of leading researchers has been assembled who will try to combine their respective different areas of expertise into a multi-faceted approach aimed at understanding the pathophysiology of myotubular myopathy so that effective therapies can be formulated.

Your support makes a difference by allowing the Joshua Frase Foundation to:

• Fund research for regenerative medicine. The Joshua Frase Foundation funds the research of Dr. Anthony Atala, of Wake Forest Institute for Regenerative Medicine (WFIRM), who was recently featured with Dr. Mehmet Oz in a story for “The Oprah Winfrey Show.” Dr. Atala and his team are working to create cells, tissues and organs for patients who need them. Over the years, Dr. Atala and his colleagues have grown numerous types of body parts including muscle, bones, a bladder and a working heart valve. The success of this research will not only benefit children born with neuromuscular disorders, but anyone suffering from a degenerative illness.
  
• Partner with the Beggs Laboratory at Children’s Hospital Boston for the study of congenital myopathies research. Dr. Alan Beggs and his team are working to understand the molecular biology of skeletal muscle and using this
  information to study inherited disorders of muscle function. They have helped discover over a dozen genes for rare diseases, including a number of congenital myopathies. Identification of these genes is critical, not only for diagnostic purposes, but also because it allows for carrier detection and prenatal diagnosis for families carrying these disease genes. Many of these tests are now in routine clinical use around the world and numerous families have benefited from accurate family planning made possible by these advances.
  
• Support researchers at Children’s Hospital Boston who were the first to establish a colony of “MTM mice” in the United States. These mice carry the same gene mutation found in boys with myotubular myopathy. In 2008, they helped to prove that gene replacement is an effective way to lessen the severe muscle weakness caused by this disease. Tests of other methods to enhance muscle growth and strength in these animals are now underway.
  
• Lend emotional support to families struggling with an infant/child who is affected by any neuromuscular disorder and create a network of individuals who work together to further the research in hope of a treatment or cure.
  
• Fund expensive medical equipment, wheelchairs and ramps for sick children of families who cannot afford the costs.
  
• Support researchers who have made significant strides in developing skeletal muscle cell therapies for clinical applications. The Wake Forest Institute for Regenerative Medicine is building an FDA-approved facility, basically a “biomedical workshop,” to engineer organs and tissues and prepare cell therapies that will be tested in patients. One of the very first studies to come out of this facility -- based on research funded by the Joshua Frase Foundation -- will test injections of muscle cells to repair damaged muscle tissue.
  
• Work with veterinarians and researchers in Canada and San Diego. The Beggs Laboratory recently helped discover a group of Labrador Retrievers with myotubular myopathy, the same disease that affects Joshua Frase. This first-ever known large animal model for MTM provides a critical opportunity to develop and test treatments for safety and efficacy prior to running human clinical trials in children. The Joshua Frase Foundation’s support enabled the acquisition of a female carrier. A colony of dogs has now been established and researchers are learning more about the disease from the dogs that carry this gene.